Funding sources: this work was supported by grants from the Spanish Ministry of Science and Innovation (MICINN) (SAF2007-61019 and SAF 2010-16976), INTRA/08/714.1 and INTA/09/758 from the Biomedical Network Research Centre on Rare Diseases (CIBERER) and S2010/BMD-2420 (CELLCAM) from Comunidad de Madrid.
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population
Article first published online: 27 SEP 2012
© 2012 The Authors. BJD © 2012 British Association of Dermatologists
British Journal of Dermatology
Volume 168, Issue 1, pages 226–229, January 2013
How to Cite
Sanchez-Jimeno, C., Cuadrado-Corrales, N., Aller, E., García, M., Escámez, M.J., Illera, N., Trujillo-Tiebas, M.J., Ayuso, C., Millán, J.M. and Del Río, M. (2013), Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population. British Journal of Dermatology, 168: 226–229. doi: 10.1111/j.1365-2133.2012.11128.x
Conflicts of interest: none declared.
C.S.J. and N.C.C. contributed equally to this work.
- Issue published online: 21 DEC 2012
- Article first published online: 27 SEP 2012
- Accepted manuscript online: 3 JUL 2012 10:15AM EST
Data S1. Single nucleotide polymorphism selection and haplotype construction. Table S1 Primers and conditions for amplification of different genetic markers. List of restriction enzymes to characterize single nucleotide polymorphisms.
Data S2. Table S2 Extragenic COL7A1 haplotypes in the general Spanish population.
Data S3. Population growth rates (r) and proportion population sample (f) in different populations. Linkage disequilibrium (LD) analysis between c.6527insC and markers. Table S3A LD analyses for the c.6527insC mutation and markers flanking the COL7A1 locus. Table S3B Estimation of the time of the most recent common ancestor of the c.6527insC chromosomes in two different areas (given area and Spain).
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